Property Summary

Ligand Count 4
NCBI Gene PubMed Count 124
PubMed Score 353.28
PubTator Score 228.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Dystonia 164
Optic Atrophy 242
Abnormal vision 52
Abnormal visual evoked potential 26
Abnormal visual pursuit 14
Abnormality of metabolism/homeostasis 134
Action Tremor 22
Aggressive behavior 75
Aggressive reaction 75
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Babinski Reflex 100
Bipolar Disorder 666
Bradykinesia 34
Bulging forehead 66
Cachexia 50
Cerebellar Ataxia 304
Cerebellar Dysmetria 56
Cerebellar degeneration 103
Cerebral atrophy 178
Childhood onset 38
Chorea 29
Choreatic disease 52
Clumsiness 7
Cognitive delay 608
Congenital deafness 185
Creatine phosphokinase serum increased 110
Deafness 198
Degenerative brain disorder 100
Deglutition Disorders 132
Delayed speech and language development 112
Depressive disorder 409
Developmental regression 95
Dull intelligence 645
Dysarthria 192
Dysdiadochokinesis 25
Dystonic disease 106
EMG: chronic denervation signs 4
Elevated creatine kinase 110
Epilepsy 792
Feeding difficulties 127
Frontal bossing 157
Frontotemporal cerebral atrophy 8
Gait Ataxia 51
Gait, Unsteady 29
Generalized muscle weakness 57
Gliosis 56
Global brain atrophy 7
Global developmental delay 608
Hearing Loss, Partial 185
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperactive behavior 91
Hyperreflexia 209
Hypoplastic mandible condyle 275
Impaired smooth pursuit 14
Impulsive Behavior 9
Infantile onset 238
Infratentorial atrophy 103
Intellectual disability 1016
Language Delay 112
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration 32
Mental deterioration in childhood 95
Micrognathism 275
Mood swings 77
Morphological abnormality of the pyramidal tract 12
Muscle Rigidity 49
Muscle Spasticity 195
Muscle hypotonia 571
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 1
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Neurodevelopmental regression 95
Neurofibrillary degeneration (morphologic abnormality) 9
Neuronal loss 25
Nonorganic psychosis 84
Nystagmus 317
Parkinsonian Disorders 56
Personality change 23
Phenotypic variability 150
Physical aggression 76
Poor school performance 645
Postural instability 19
Progressive disorder 142
Prominent forehead 66
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychotic Disorders 151
Pyramidal sign 29
Pyramidal tract disease 12
Rapidly progressive 27
Rapidly progressive disorder 27
Reduced concentration span 9
Schizophrenia 1160
Seizures 596
Short nose 132
Small nose 132
Spastic Quadriplegia 42
Speech Delay 112
Speech impairment 112
Strabismus 270
Supranuclear gaze palsy 6
Supratentorial atrophy 94
Talipes Calcaneovalgus 6
Terminal tremor 20
Tremor 113
Visual Impairment 174
hearing impairment 199
Disease Target Count P-value
osteosarcoma 7950 2.8e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Disease of cellular proliferation 3 0.0 1.7
Melanoma 711 0.0 1.4
Disease Target Count Z-score Confidence
Parkinson's disease 392 3.826 1.9
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.321 2.8e-05

 IMPC Phenotype (1)

Gene RIF (104)

AA Sequence

MQFFGRLVNTFSGVTNLFSNPFRVKEVAVADYTSSDRVREEGQLILFQNTPNRTWDCVLVNPRNSQSGFR      1 - 70
LFQLELEADALVNFHQYSSQLLPFYESSPQVLHTEVLQHLTDLIRNHPSWSVAHLAVELGIRECFHHSRI     71 - 140
ISCANCAENEEGCTPLHLACRKGDGEILVELVQYCHTQMDVTDYKGETVFHYAVQGDNSQVLQLLGRNAV    141 - 210
AGLNQVNNQGLTPLHLACQLGKQEMVRVLLLCNARCNIMGPNGYPIHSAMKFSQKGCAEMIISMDSSQIH    211 - 280
SKDPRYGASPLHWAKNAEMARMLLKRGCNVNSTSSAGNTALHVAVMRNRFDCAIVLLTHGANADARGEHG    281 - 350
NTPLHLAMSKDNVEMIKALIVFGAEVDTPNDFGETPTFLASKIGRLVTRKAILTLLRTVGAEYCFPPIHG    351 - 420
VPAEQGSAAPHHPFSLERAQPPPISLNNLELQDLMHISRARKPAFILGSMRDEKRTHDHLLCLDGGGVKG    421 - 490
LIIIQLLIAIEKASGVATKDLFDWVAGTSTGGILALAILHSKSMAYMRGMYFRMKDEVFRGSRPYESGPL    491 - 560
EEFLKREFGEHTKMTDVRKPKVMLTGTLSDRQPAELHLFRNYDAPETVREPRFNQNVNLRPPAQPSDQLV    561 - 630
WRAARSSGAAPTYFRPNGRFLDGGLLANNPTLDAMTEIHEYNQDLIRKGQANKVKKLSIVVSLGTGRSPQ    631 - 700
VPVTCVDVFRPSNPWELAKTVFGAKELGKMVVDCCTDPDGRAVDRARAWCEMVGIQYFRLNPQLGTDIML    701 - 770
DEVSDTVLVNALWETEVYIYEHREEFQKLIQLLLSP                                      771 - 806
//

Text Mined References (124)

PMID Year Title